TY - JOUR
AU1 - Gibbons, Melissa
AU2 - Stratton, Anne
AU3 - Parsons, Julie
AB - Purpose of Review Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in the SMN1 gene. It is relatively common worldwide, affecting approximately 1 in 11,000 live births, and about 1 in every 54 individuals is a carrier. The FDA-approved nusinersen (Spinraza) in December 2016 and onasmenogene abeparvovec (Zolgensma) in May 2019 for treatment of SMA after clinical trials showed slowed progression, improved motor function, and improved survival in treated infants and children. This review is aimed at educating medical professionals to facilitate a better understanding of SMA genetics, care recommendations, current and future therapies, and the avenues for early diagnosis. Recent Findings With the advent of disease-modifying treatment for SMA, the prognosis and outcomes for patients are changing rapidly. Treatment response is time sensitive, and it is important to diagnose as early as possible and counsel families so prompt decisions regarding treatment can be made. An updated consensus statement on standards of care was published in 2018. Summary Understanding the historical phenotypes, genetics and treatment options are critical to provide comprehensive counseling to families, allowing them to make informed decisions. Improved education of providers and advances in screening recommendations and create the opportunity for 
TI - Spinal Muscular Atrophy (SMA) in the Therapeutic Era
JF - Current Genetic Medicine Reports
DO - 10.1007/s40142-019-00172-9
DA - 2019-07-16
UR - https://www.deepdyve.com/lp/springer-journals/spinal-muscular-atrophy-sma-in-the-therapeutic-era-MXa55bu5mT
SP - 162
EP - 167
VL - 7
IS - 3
DP - DeepDyve
ER -